Rodriguez Maria M
University of Miami, School of Medicine, Jackson Children's Hospital, Department of Pathology, 1611 NW 12 Avenue, Miami, FL 33184, USA.
Fetal Pediatr Pathol. 2004 Jul-Aug;23(4):211-29. doi: 10.1080/15227950490923453.
Congenital anomalies of the kidney and urinary tract are responsible for approximately 40% of cases of childhood end-stage renal failure in the United States. This article describes the spectrum of developmental renal lesions in children (including renal agenesis, dysplasias, hereditary hydronephrosis, autosomal recessive and dominant polycystic kidneys, vesicoureteral reflux, diabetic embryopathy, some teratogenic drugs affecting renal development, and syndromes associated with renal dysplasias). The article quotes some historic references that established the foundation for further studies; reviews the embryology, pathology, postnatal renal development, and its possible consequences of renal function; as well as recent advances in fetal ultrasonography and molecular biology with some novel treatment and diagnostic modalities. Finally, an attempt is made to predict several future avenues in pharmacogenetics that are being built currently and that will allow a better prognosis for many children with congenital renal conditions.
在美国,先天性肾和尿路异常约占儿童终末期肾衰竭病例的40%。本文描述了儿童发育性肾脏病变的范围(包括肾缺如、发育异常、遗传性肾积水、常染色体隐性和显性多囊肾、膀胱输尿管反流、糖尿病胚胎病、一些影响肾脏发育的致畸药物以及与肾脏发育异常相关的综合征)。文章引用了一些为进一步研究奠定基础的历史参考文献;回顾了胚胎学、病理学、出生后肾脏发育及其对肾功能可能产生的后果;以及胎儿超声检查和分子生物学方面的最新进展及一些新颖的治疗和诊断方法。最后,尝试预测目前正在构建的药物遗传学未来的几个发展方向,这将为许多患有先天性肾脏疾病的儿童带来更好的预后。